196 related articles for article (PubMed ID: 30028520)
21. p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Rigamonti A; Mantero V; Peverelli L; Pagliarani S; Lucchiari S; Comi G; Gibertini S; Salmaggi A
Neurol Sci; 2021 Dec; 42(12):5359-5363. PubMed ID: 34378097
[TBL] [Abstract][Full Text] [Related]
22. Relief from episodic weakness with pyridostigmine in paramyotonia congenita: a family study.
Khadilkar SV; Singh RK; Mansukhani KA; Urtizberea JA; Sternberg D
Muscle Nerve; 2010 Jan; 41(1):133-7. PubMed ID: 19768756
[TBL] [Abstract][Full Text] [Related]
23. Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita.
Parasivam S; Krupa M; Slee M; Thyagarajan DE
Med J Aust; 2009 Mar; 190(6):334-6. PubMed ID: 19296818
[TBL] [Abstract][Full Text] [Related]
24. Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.
Feng Y; Ji X; Sun X; Wang H; Zhang C
J Clin Neurosci; 2011 Aug; 18(8):1138-40. PubMed ID: 21665479
[TBL] [Abstract][Full Text] [Related]
25. A zebrafish model of nondystrophic myotonia with sodium channelopathy.
Nam TS; Zhang J; Chandrasekaran G; Jeong IY; Li W; Lee SH; Kang KW; Maeng JS; Kang H; Shin HY; Park HC; Kim S; Choi SY; Kim MK
Neurosci Lett; 2020 Jan; 714():134579. PubMed ID: 31669315
[TBL] [Abstract][Full Text] [Related]
26. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
Brancati F; Valente EM; Davies NP; Sarkozy A; Sweeney MG; LoMonaco M; Pizzuti A; Hanna MG; Dallapiccola B
J Neurol Neurosurg Psychiatry; 2003 Sep; 74(9):1339-41. PubMed ID: 12933953
[TBL] [Abstract][Full Text] [Related]
27. Sinus arrest in familial hypokalemic periodic paralysis caused by SCN4A mutation: a case report.
Bui TD; Pham ND; Phan-Nguyen TV; Vu-Thi LN; Tran VT; Nguyen VH; Nguyen MD; Tran H
Eur Rev Med Pharmacol Sci; 2023 Mar; 27(5):1767-1773. PubMed ID: 36930492
[TBL] [Abstract][Full Text] [Related]
28. [Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].
Li W; Chen Q; Zhang Q; Li X; Du J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):131-4. PubMed ID: 27060299
[TBL] [Abstract][Full Text] [Related]
29. [Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita].
Song J; Zhang JW; Fu J; Pang M; Li G; Ma MM
Zhonghua Nei Ke Za Zhi; 2020 Jul; 59(7):535-539. PubMed ID: 32594687
[No Abstract] [Full Text] [Related]
30. Sodium Channelopathies of Skeletal Muscle.
Cannon SC
Handb Exp Pharmacol; 2018; 246():309-330. PubMed ID: 28939973
[TBL] [Abstract][Full Text] [Related]
31. Myotonic discharges discriminate chloride from sodium muscle channelopathies.
Drost G; Stunnenberg BC; Trip J; Borm G; McGill KC; Ginjaar IH; van der Kooi AW; Zwarts MJ; van Engelen BG; Faber CG; Stegeman DF; Lateva Z
Neuromuscul Disord; 2015 Jan; 25(1):73-80. PubMed ID: 25454733
[TBL] [Abstract][Full Text] [Related]
32. Paramyotonia congenita and skeletal sodium channelopathy.
Tamaoka A
Intern Med; 2003 Sep; 42(9):769-70. PubMed ID: 14518660
[No Abstract] [Full Text] [Related]
33. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Vicart S; Sternberg D; Fournier E; Ochsner F; Laforet P; Kuntzer T; Eymard B; Hainque B; Fontaine B
Neurology; 2004 Dec; 63(11):2120-7. PubMed ID: 15596759
[TBL] [Abstract][Full Text] [Related]
34. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
Ferriby D; Stojkovic T; Sternberg D; Hurtevent JF; Hurtevent JP; Vermersch P
Neuromuscul Disord; 2006 May; 16(5):321-4. PubMed ID: 16624558
[TBL] [Abstract][Full Text] [Related]
35. Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?
Stunnenberg BC; Deinum J; Links TP; Wilde AA; Franssen H; Drost G
Muscle Nerve; 2014 Sep; 50(3):327-32. PubMed ID: 25088161
[TBL] [Abstract][Full Text] [Related]
36. [Analgesia for labour and delivery in a parturient with paramytonia congenita].
Frossard B; Combret C; Benhamou D
Ann Fr Anesth Reanim; 2013 May; 32(5):372-4. PubMed ID: 23648013
[TBL] [Abstract][Full Text] [Related]
37. Clinical Reasoning: A child with muscle stiffness.
Ebert SE; Cartwright MS
Neurology; 2020 Sep; 95(11):e1609-e1612. PubMed ID: 32527974
[No Abstract] [Full Text] [Related]
38. Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
Xu C; Qi J; Shi Y; Feng Y; Zang W; Zhang J
Int J Clin Exp Pathol; 2015; 8(1):1050-6. PubMed ID: 25755818
[TBL] [Abstract][Full Text] [Related]
39. Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
Nurputra DK; Nakagawa T; Takeshima Y; Harahap IS; Morikawa S; Sakaeda T; Lai PS; Matsuo M; Takaoka Y; Nishio H
Pediatr Int; 2012 Oct; 54(5):602-12. PubMed ID: 22507243
[TBL] [Abstract][Full Text] [Related]
40. Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Corrochano S; Männikkö R; Joyce PI; McGoldrick P; Wettstein J; Lassi G; Raja Rayan DL; Blanco G; Quinn C; Liavas A; Lionikas A; Amior N; Dick J; Healy EG; Stewart M; Carter S; Hutchinson M; Bentley L; Fratta P; Cortese A; Cox R; Brown SD; Tucci V; Wackerhage H; Amato AA; Greensmith L; Koltzenburg M; Hanna MG; Acevedo-Arozena A
Brain; 2014 Dec; 137(Pt 12):3171-85. PubMed ID: 25348630
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
